Only five cases of intragenic duplication of DOCK8 were described in the DECIPHER v9.21 database, and these patients’ phenotypes included ID/DD (3/5, 60.00%), ASD (1/5, 20.00%), and no macrocephaly, microcephaly or ADHD (DECIPHER v9.21). The gene discussed is DOCK8; the disease is Macrocephaly.